Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3760281019 | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3760282014 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760283016 | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3760284010 | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760285011 | Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760286012 | A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3760287015 | A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR